Incidental Mutation 'R3079:Syt4'
| ID |
265358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt4
|
| Ensembl Gene |
ENSMUSG00000024261 |
| Gene Name |
synaptotagmin IV |
| Synonyms |
|
| MMRRC Submission |
040569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3079 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31570861-31580459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31574738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 293
(V293A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025110]
|
| AlphaFold |
P40749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025110
AA Change: V293A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025110
Gene: ENSMUSG00000024261
AA Change: V293A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
150 |
N/A |
INTRINSIC |
|
C2
|
169 |
273 |
1.5e-19 |
SMART |
|
C2
|
303 |
417 |
3.5e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181067
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impairments in motor coordination, contextual fear conditioning, and social transmission of food preference. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,879 (GRCm39) |
L168H |
probably damaging |
Het |
| Abca15 |
T |
C |
7: 119,984,392 (GRCm39) |
W1158R |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Aqp11 |
A |
T |
7: 97,386,795 (GRCm39) |
C134S |
probably benign |
Het |
| Arhgap35 |
A |
G |
7: 16,296,501 (GRCm39) |
Y855H |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,063,545 (GRCm39) |
D462G |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,631,422 (GRCm39) |
R1494G |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,611,750 (GRCm39) |
S109P |
possibly damaging |
Het |
| Elp4 |
T |
C |
2: 105,639,790 (GRCm39) |
K130E |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,036,345 (GRCm39) |
V666E |
probably damaging |
Het |
| Hba-x |
A |
G |
11: 32,227,616 (GRCm39) |
D62G |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,432,540 (GRCm39) |
Y474* |
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Mrc2 |
T |
C |
11: 105,227,539 (GRCm39) |
S591P |
probably damaging |
Het |
| Msh5 |
T |
C |
17: 35,265,208 (GRCm39) |
E48G |
probably benign |
Het |
| Mybpc2 |
T |
C |
7: 44,155,505 (GRCm39) |
D916G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,794 (GRCm39) |
R236G |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,467,467 (GRCm39) |
R1436S |
probably damaging |
Het |
| Or14j4 |
T |
C |
17: 37,921,169 (GRCm39) |
T158A |
probably benign |
Het |
| Or51a7 |
C |
T |
7: 102,622,254 (GRCm39) |
|
probably null |
Het |
| Padi2 |
T |
C |
4: 140,677,189 (GRCm39) |
V659A |
probably damaging |
Het |
| Pnpla6 |
T |
G |
8: 3,591,512 (GRCm39) |
S1169A |
probably benign |
Het |
| Pramel30 |
T |
G |
4: 144,058,098 (GRCm39) |
L235R |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,502,983 (GRCm39) |
D193G |
possibly damaging |
Het |
| Rce1 |
G |
T |
19: 4,674,750 (GRCm39) |
C138* |
probably null |
Het |
| Shoc1 |
G |
T |
4: 59,047,848 (GRCm39) |
T1257N |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,870 (GRCm39) |
T259A |
probably benign |
Het |
| Slc66a1 |
G |
T |
4: 139,033,829 (GRCm39) |
A30D |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Slfn1 |
T |
C |
11: 83,011,986 (GRCm39) |
V34A |
probably benign |
Het |
| Trh |
T |
C |
6: 92,219,551 (GRCm39) |
E255G |
possibly damaging |
Het |
| Ube4a |
G |
T |
9: 44,871,371 (GRCm39) |
N9K |
probably damaging |
Het |
| Uck1 |
A |
T |
2: 32,148,089 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Wbp2 |
C |
T |
11: 115,970,534 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
G |
1: 63,346,636 (GRCm39) |
I1672V |
probably benign |
Het |
|
| Other mutations in Syt4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Syt4
|
APN |
18 |
31,580,227 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01476:Syt4
|
APN |
18 |
31,574,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Syt4
|
APN |
18 |
31,576,896 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02550:Syt4
|
APN |
18 |
31,577,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Syt4
|
APN |
18 |
31,577,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F6893:Syt4
|
UTSW |
18 |
31,577,274 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
PIT4434001:Syt4
|
UTSW |
18 |
31,573,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Syt4
|
UTSW |
18 |
31,580,273 (GRCm39) |
start gained |
probably benign |
|
|
R0526:Syt4
|
UTSW |
18 |
31,576,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1122:Syt4
|
UTSW |
18 |
31,573,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Syt4
|
UTSW |
18 |
31,577,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Syt4
|
UTSW |
18 |
31,576,496 (GRCm39) |
splice site |
probably benign |
|
|
R1895:Syt4
|
UTSW |
18 |
31,577,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2114:Syt4
|
UTSW |
18 |
31,573,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Syt4
|
UTSW |
18 |
31,573,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Syt4
|
UTSW |
18 |
31,576,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3730:Syt4
|
UTSW |
18 |
31,577,189 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4870:Syt4
|
UTSW |
18 |
31,580,409 (GRCm39) |
start gained |
probably benign |
|
|
R7638:Syt4
|
UTSW |
18 |
31,576,875 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7646:Syt4
|
UTSW |
18 |
31,574,658 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7746:Syt4
|
UTSW |
18 |
31,577,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7799:Syt4
|
UTSW |
18 |
31,573,245 (GRCm39) |
nonsense |
probably null |
|
|
R8174:Syt4
|
UTSW |
18 |
31,577,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8199:Syt4
|
UTSW |
18 |
31,577,268 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8428:Syt4
|
UTSW |
18 |
31,577,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:Syt4
|
UTSW |
18 |
31,573,472 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8487:Syt4
|
UTSW |
18 |
31,576,790 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Y5404:Syt4
|
UTSW |
18 |
31,576,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCATGATCCTGAGGGACAAAAC -3'
(R):5'- ATGGCAGGCAATGGATTTAGTC -3'
Sequencing Primer
(F):5'- CAAAACCAGACTCCAATGTTAGTTG -3'
(R):5'- GCGGCATAAAAGCAGTTTTTCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation